Property Summary

NCBI Gene PubMed Count 54
PubMed Score 292.48
PubTator Score 131.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.200 3.2e-02
non diabetic and post-ischemic heart fai... 2.200 1.9e-02
type II diabetes mellitus and post-ische... 2.100 2.1e-02
adrenocortical carcinoma -1.366 6.7e-06
lung cancer 1.500 3.2e-03
posterior fossa group B ependymoma 1.100 7.9e-04
lung carcinoma 3.400 4.1e-17

Gene RIF (27)

PMID Text
26403434 Prominent foot-drop was associated with NEB gene mutations in three patients with core-rod myopathy.
25740301 Identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy.
25296583 Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes, it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described.
25205138 indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders
25023003 Mutations in NEB gene is associated with stress fracture.
24725366 This study demonistrated that Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity.
23985323 We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2
23715096 A nebulin-based nemaline myopathy model is characterized in transgenic mice following deletion of exon 55 in nebulin.
23615443 Data suggest that for some filament-forming desmin mutants, the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin, a major actin-binding filament protein of striated muscle.
22941678 Multiple isoforms of nebulin expressed in skeletal muscle and brain may have a role as actin filament stabilizer or length regulator in neurons of the human brain
22367672 Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for nemaline.
21724397 distal nemaline myopathy caused by four different compound heterozygous nebulin mutations
21350120 The mechanics as well as the X-ray diffraction patterns of human membrane-permeabilized single muscle fibers expressing nebulin mutations are reported.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20498015 Nebulin regulates thin filament architecture by a mechanism that includes stabilizing the filaments and preventing actin depolymerization.
19944167 Data revealed markedly reduced nebulin protein levels in muscle from nemaline myopathy patients, whereas levels of other thin filament-based proteins were not significantly altered.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19232495 In all but two of eight homozygous patients with nebulin mutations, the clinical picture was more severe than in typical nemaline myopathy.
18639526 These data suggest a model in which archvillin attaches directly to the Z-line of skeletal muscle through an interaction with the nebulin C-terminus.
17275809 These data suggest that N-terminal superrepeat nebulin modules are incapable of supporting interactions with the cardiac myofilaments; whereas the C-terminal nebulin modules can.
16917880 45 novel mutations within the nubulin gene are associated with nemaline myopathy.
12482578 Nebulin is targeted and oriented through titin and myopalladin signaling during sarcomere assembly
12207937 Mutations caused absence of the C-terminal part of nebulin resulting in severe congenital form of nemaline myopathy.
12064939 nebulin colocalizes with desmin in a Z-line-associated, striated pattern, thereby forming a lateral linkage system which contributes to maintain adjacent Z-lines in register as shown by immunofluorescence studies
11994971 Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.
11851340 SH3 domain of nebulin binds selectively to type II peptides: theoretical prediction and experimental validation
11425319 Nebulin is thought to serve as both a length-regulating protein ruler and calcium/calmodulin-mediated regulatory protein on the thin filaments of the skeletal muscle sarcomere.

AA Sequence

MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKPALAQPALAQPASAKPVERRK      1 - 70
VIRKKVDPSKFMTPYIAHSQKMQDLFSPNKYKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMD     71 - 140
GDVAKTICHVDEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTAMFSKKLYTED    141 - 210
WEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQAQFTPLADPPDIEFAKKVTNQVSKQKYKED    211 - 280
YENKIKGKWSETPCFEVANARMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKE    281 - 350
DYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSINYCETPKFKLDTVLQNFSSDK    351 - 420
KYKDSYLKDILGHYVGSFEDPYHSHCMKVTAQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKD    421 - 490
HTYKVHPDKTKFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHKVNAYNLSDNL    491 - 560
YKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEKNKGKMIGVLSINDDPKMLHSLKVAKNQ    561 - 630
SDRLYKENYEKTKAKSMNYCETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN    631 - 700
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFTAVTDSPVLLQAQLNTKQLSD    701 - 770
LNYKAKHEGEKFKCHIPADAPQFIQHRVNAYNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTS    771 - 840
DVMYKKDYEKSKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDMLQVTQAKKSQA    841 - 910
IASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKADYNSWMKGCGWVPFGSLEMEKAKRASDILN    911 - 980
EKKYRQHPDTLKFTSIEDAPITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISEN    981 - 1050
MYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMVGFQSLQDDPKLVHYMNVAKI   1051 - 1120
QSDREYKKDYEKTKSKYNTPHDMFNVVAAKKAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDN   1121 - 1190
VYKEDYNNWMKGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAKQNTKQVSDIL   1191 - 1260
YKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDWYDLIAKGNNVLGDAIPITAAKASRNIASDY   1261 - 1330
KYKEAYEKSKGKHVGFRSLQDDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA   1331 - 1400
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWIPIGSLEVEKVKKAGDALNER   1401 - 1470
KYRQHPDTVKFTSVPDSMGMVLAQHNTKQLSDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHY   1471 - 1540
KADWKKTIAKGYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLVHYMNVAKIQS   1541 - 1610
DREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYRQSYHHYTLLPDALNVEHSRNAMQIQSDNLY   1611 - 1680
KSDFTNWMKGIGWVPIESLEVEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYT   1681 - 1750
EKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRPDAIAIKAARASRDIASDYKY   1751 - 1820
KKAYEQAKGKHIGFRSLEDDPKLVHFMQVAKMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATN   1821 - 1890
ANYRNVIHTYNMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKKAMEIISEKKY   1891 - 1960
RQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEADKTKVHIMPDIPQIILAKANAINMSDKLYKL   1961 - 2030
SLEESKKKGYDLRPDAIPIKAAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR   2031 - 2100
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDAMNIELTRNMNRIQSDNEYKQ   2101 - 2170
DYNEWYKGLGWSPAGSLEVEKAKKATEYASDQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTID   2171 - 2240
WNKDKTKIHVMPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASRDIASDYKYKQ   2241 - 2310
GYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDFEKWKTKFSSPVDMLGVVLAKKCQELVSDVD   2311 - 2380
YKNYLHQWTCLPDQNDVVQAKKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQP   2381 - 2450
PDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDIVLAKANLINTSDKLYRMGYE   2451 - 2520
ELKRKGYDLPVDAIPIKAAKASREIASEYKYKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYK   2521 - 2590
KDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNLYKSDLQ   2591 - 2660
WLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFSSLMDSIPMVLAKNNAITMNHRLYTEAWDKD   2661 - 2730
KTTVHIMPDTPEVLLAKQNKVNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK   2731 - 2800
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNY   2801 - 2870
LHQWTCLPDQSDVIHARQAYDLQSDNMYKSDLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRF   2871 - 2940
KFTSVTDSLEQVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETLYKLANEEAKK   2941 - 3010
KGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFE   3011 - 3080
KWKTKFSSPVDMLGVVLAKKCQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRG   3081 - 3150
IGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNNALNMNKRLYTEAWDKDKTQV   3151 - 3220
HIMPDTPEIMLARQNKINYSESLYRQAMEEAKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGH   3221 - 3290
HIGARAVHDDPKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSDVDYKHPLHEW   3291 - 3360
ICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPIDSLEVVRAKRAGELLSDTIYRQRPETLKFTS   3361 - 3430
ITDTPEQVLAKNNALNMNKRLYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD   3431 - 3500
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSIHVAKIQSDREYKKEFEKWKT   3501 - 3570
KFSSPVDMLGVVLAKKCQILVSDIDYKHPLHEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWV   3571 - 3640
PIGSVEVEKVKRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWDADKTSIHVMP   3641 - 3710
DTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAISIKSAKASRDIASDYKYKEAYEKQKGHHIGA   3711 - 3780
QSIEDDPKIMCAIHAGKIQSEREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMP   3781 - 3850
DQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIFCDSVYRTPVVNLKYTSIVDT   3851 - 3920
PEVVLAKSNAENISIPKYREVWDKDKTSIHIMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDA   3921 - 3990
IPIQAAKASREIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDWAKWKAKIQSP   3991 - 4060
VDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQAKKAYELQSDNVYKADLEWLRGIGWMPNDSV   4061 - 4130
SVNHAKHAADIFSEKKYRTKIETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH   4131 - 4200
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKYKAEHVKQKGHYVGVPTMRDD   4201 - 4270
PKLVWFEHAGQIQNERLYKEDYHKTKAKINIPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVI   4271 - 4340
QARKAYDLQSDNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNFRSVVDPPEIV   4341 - 4410
LAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDMGKLYSTILYKGAWEGTKAYGYTLDERYIPI   4411 - 4480
VGAKHADLVNSELKYKETYEKQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDM   4481 - 4550
MNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYKDDLNWLKGIGCYVWDTPQIL   4551 - 4620
HAKKSYDLQSQLQYTAAGKENLQNYNLVTDTPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYD   4621 - 4690
RTRNLKNLYSSNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKALYTLPRSVDDD   4691 - 4760
PNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVTAKDSQKKVSEIDYRLRLHEWICHPDLQVND   4761 - 4830
HVRKVTDQISDIVYKDDLNWLKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV   4831 - 4900
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLYKTSLRTLPTGYRLPGDTPHF   4901 - 4970
KHIKDTRYMSSYFKYKEAYEHTKAYGYTLGPKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPE   4971 - 5040
IRQVKKTQEAVSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKGFGCFLYDTPD   5041 - 5110
MVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQELKTHLSELVYRAAGKKQKSIFTSVPDTPD   5111 - 5180
LLRAKRGQKLQSQYLYVELATKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPI   5181 - 5250
LIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIKYKENYMSQLGIWRSIPDRPE   5251 - 5320
HFHHRAVTDTVSDVKYKEDLTWLKGIGCYAYDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPI   5321 - 5390
NRHFKYATQLMNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKDKFTSIVDTPE   5391 - 5460
HLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHVRKVKDEVSDLKYKEVYQRNKSNCTIEPDAV   5461 - 5530
HIKAAKDAYKVNTNLDYKKQYEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK   5531 - 5600
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSENKYKDHVKKHLAQGSYTTLPE   5601 - 5670
TRDTVHVKEVTKHVSDTNYKKKFVKEKGKSNYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVA   5671 - 5740
DRPDIKKATQAAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFDKEKGKTPKYN   5741 - 5810
PKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESLIMNHVLNTSQLASSYQYKKKYEKSKGHYHT   5811 - 5880
IPDNLEQLHLKEATELQSIVKYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNL   5881 - 5950
TGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAKNATQILNEKEYKRDLELEVK   5951 - 6020
GRGLNAMANETPDFMRARNATDIASQIKYKQSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEK   6021 - 6090
SMSYYETVLDTPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFSSVLYKEDVSP   6091 - 6160
GTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPEVKRVKETQKHISSVMYKENLGTGIPTTVTP   6161 - 6230
EIERVKRNQENFSSVLYKENLGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHN   6231 - 6300
QENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPTPFTPEMERVKRNQENFSSVL   6301 - 6370
YKENMRKATPTPVTPEMERAKRNQENISSVLYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHE   6371 - 6440
DFEKHKGCFTPVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRVWRTNPGSVFD   6441 - 6510
YDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGEEKSEHSEAPDHHLSTYSDGGVFAVSTAYKH   6511 - 6580
AKTTELPQQRSSSVATQQTTVSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYG   6581 - 6650
TVQRTGRTGMLPANYVEAI                                                      6651 - 6669
//

Text Mined References (54)

PMID Year Title
26403434 2015 Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
25740301 2015 Two novel nebulin variants in an adult patient with congenital nemaline myopathy.
25296583 2014 Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.
25023003 2014 Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing.
24725366 2014 Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
23985323 2013 Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.
23715096 2013 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
23615443 2013 Nebulin binding impedes mutant desmin filament assembly.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
22941678 2012 Expression of multiple nebulin isoforms in human skeletal muscle and brain.
22367672 2012 Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
21350120 2011 Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20498015 2010 Nebulin regulates actin filament lengths by a stabilization mechanism.
19944167 2010 Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19232495 2009 The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18639526 2008 Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus.
17275809 2007 Targeting of nebulin fragments to the cardiac sarcomere.
16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
16902413 2006 Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo.
15967462 2005 MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.
15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
15048123 2004 Abi1 is essential for the formation and activation of a WAVE2 signalling complex.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12837582 2003 Nebulin: the nebulous, multifunctional giant of striated muscle.
12482578 2002 Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
12064939 Molecular dissection of the interaction of desmin with the C-terminal region of nebulin.
11882289 2002 Each actin subunit has three nebulin binding sites: implications for steric blocking.
11851340 2002 The SH3 domain of nebulin binds selectively to type II peptides: theoretical prediction and experimental validation.
11425319 2001 Mapping protein interfaces with a fluorogenic cross-linker and mass spectrometry: application to nebulin-calmodulin complexes.
11309420 2001 Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies.
11016930 2001 The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments.
10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
9514727 1998 SH3 in muscles: solution structure of the SH3 domain from nebulin.
9501083 1998 Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin.
9359044 Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
9284930 1997 Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha 1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization; the FRA2G common fragile site lies between the two genes in the 2q31 band.
8816284 1996 Assembly of nebulin into the sarcomeres of avian skeletal muscle.
8626778 1996 Human skeletal muscle nebulin sequence encodes a blueprint for thin filament architecture. Sequence motifs and affinity profiles of tandem repeats and terminal SH3.
8580725 1995 A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.
7739042 1995 The complete primary structure of human nebulin and its correlation to muscle structure.
3397062 1988 Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32.
2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.
2037050 1991 Evidence that nebulin is a protein-ruler in muscle thin filaments.
1682316 1991 Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules.